{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T15:41:57Z","timestamp":1766504517033,"version":"3.40.5"},"reference-count":25,"publisher":"Instituto Nacional de Salud (Colombia)","issue":"4","license":[{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["revistabiomedica.org"],"crossmark-restriction":false},"short-container-title":["biomedica"],"abstract":"<jats:p>El s\u00edndrome de Adams-Oliver es un trastorno cong\u00e9nito raro, caracterizado por aplasia cutis cong\u00e9nita en el cuero cabelludo, defectos terminales transversales de las extremidades y piel marmorata telangiect\u00e1sica cong\u00e9nita. Este puede presentarse debido a diferentes patrones de herencia de tipo autos\u00f3mico dominante o autos\u00f3mico recesivo, o por mutaciones dominantes de novo.Aunque el s\u00edndrome de Adams-Oliver es una enfermedad poco frecuente, es importante conocer sus caracter\u00edsticas cl\u00ednicas y patrones de herencia, para as\u00ed establecer un correcto diagn\u00f3stico y sus posibles complicaciones durante el seguimiento. En el presente estudio, se describe el caso de una adolescente con s\u00edndrome de Adams-Oliver con patr\u00f3n de herencia autos\u00f3mica dominante, hipertensi\u00f3n pulmonar y bronquitis pl\u00e1stica. Hab\u00eda varios miembros de su familia con el mismo compromiso.<\/jats:p>","DOI":"10.7705\/biomedica.6524","type":"journal-article","created":{"date-parts":[[2022,12,12]],"date-time":"2022-12-12T21:32:12Z","timestamp":1670880732000},"page":"554-561","update-policy":"https:\/\/doi.org\/10.7705\/crossmark","source":"Crossref","is-referenced-by-count":3,"title":["S\u00edndrome de Adams-Oliver y complicaciones asociadas: reporte de una familia en Colombia y revisi\u00f3n de la literatura"],"prefix":"10.7705","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3184-8963","authenticated-orcid":false,"given":"Olga Luc\u00eda","family":"Morales","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3035-9941","authenticated-orcid":false,"given":"Jerly Maybelline","family":"D\u00edaz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6983-4770","authenticated-orcid":false,"given":"Jorge Hern\u00e1n","family":"Montoya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"4444","published-online":{"date-parts":[[2022,12,1]]},"reference":[{"key":"112375","doi-asserted-by":"crossref","unstructured":"Piazza AJ, Blackston D, Sola A. 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